Functional characterisation of mitochondrial tRNA(Tyr) mutation (5877-->GA) associated with familial chronic progressive external ophthalmoplegia

J Med Genet. 2001 Oct;38(10):703-5. doi: 10.1136/jmg.38.10.703.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Base Sequence
  • Cell Survival
  • Cells, Cultured
  • DNA Mutational Analysis
  • Electron Transport / genetics
  • Female
  • Fibroblasts
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Mitochondria, Muscle / genetics
  • Mitochondria, Muscle / metabolism
  • Mitochondria, Muscle / pathology
  • Muscles / metabolism
  • Muscles / pathology
  • Mutation / genetics*
  • Nucleic Acid Conformation
  • Ophthalmoplegia, Chronic Progressive External / genetics*
  • Ophthalmoplegia, Chronic Progressive External / metabolism
  • Ophthalmoplegia, Chronic Progressive External / pathology*
  • Ophthalmoplegia, Chronic Progressive External / physiopathology
  • Oxygen / metabolism
  • Oxygen Consumption / genetics
  • Phenotype
  • RNA / genetics*
  • RNA, Mitochondrial
  • RNA, Transfer, Tyr / genetics*

Substances

  • RNA, Mitochondrial
  • RNA, Transfer, Tyr
  • RNA
  • Oxygen